ORPHA:93474
Scheie syndrome
Synonyms: MPS1S · MPSIS · Mucopolysaccharidosis type 1S · Mucopolysaccharidosis type IS
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Scheie syndrome | MPS1S · MPSIS · Mucopolysaccharidosis type 1S · Mucopolysaccharidosis type IS |
| fr | Syndrome de Scheie | MPS1S · MPSIS · Mucopolysaccharidose type 1S · Mucopolysaccharidose type IS |
| de | Scheie-Syndrom | MPS1S · MPSIS · Mukopolysaccharidose Typ 1S · Mukopolysaccharidose Typ IS · Scheie-Krankheit |
| es | Síndrome de Scheie | MPS1S · MPSIS · Mucopolisacaridosis tipo 1S · Mucopolisacaridosis tipo IS |
| it | Sindrome di Scheie | MPS1S · MPSIS · Mucopolisaccaridosi, tipo 1S · Mucopolisaccaridosi, tipo IS |
| nl | Syndroom van Scheie | MPS1S · MPSIS · Mucopolysacharidose type 1S · Mucopolysacharidose type IS |
| pt | Síndrome Scheie | |
| pl | Zespół Scheie | MPS1S · MPSIS · Mukopolisacharydoza typu 1S · Mukopolisacharydoza typu IS |
| cs | Scheieův syndrom | MPS1S · MPSIS · Mukopolysacharidóza, typ 1S · Mukopolysacharidóza, typ IS |
| uk | Синдром Шейє | MPS1S · MPSIS · Мукополісахаридоз типу 1S · Мукополісахаридоз типу ІС |
| zh | Scheie综合征 | 粘多糖贮积症IS型 |
| tr | Scheie sendromu | MPS1S · MPSIS · Mukopolisakkaridoz tip 1S · Mukopolisakkaridoz tipi IS |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607016 | E | validated | |
| ICD-10 | E76.0 | NTBT | attributed | validated |
| ICD-11 | 5C56.30 | NTBT | index | validated |
| MONDO | 0011760 | E | validated | |
| UMLS | C0026708 | E | validated | |
| GARD | 12561 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:579Mucopolysaccharidosis type 1
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare ophthalmic disorders; rare bone diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IDUA | Disease-causing germline mutation(s) in | Assessed | HGNC:5391 | ENSG00000127415 | 252800 | 4p16.3 | alpha-L-iduronidase | 8680403[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.2 / 100 000 | Canada | Value and class | Validated | 4250044[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.07 / 100 000 | United Kingdom | Value and class | Validated | 18796143[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.2 / 100 000 | Canada | Value and class | Validated | 4250044[PMID]_ORPHANET |
| Point prevalence | <1 / 1 000 000 | 0.07 / 100 000 | United Kingdom | Value and class | Validated | 18796143[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040129 | Abnormal nerve conduction velocity | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0001659 | Aortic regurgitation | |
| HP:0100021 | Cerebral palsy | |
| HP:0007957 | Corneal opacity | |
| HP:0000501 | Glaucoma | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0008155 | Mucopolysacchariduria | |
| Frequent (79-30%) | ||
| HP:0000280 | Coarse facial features | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002240 | Hepatomegaly | |
| HP:0001744 | Splenomegaly | |
| HP:0012471 | Thick vermilion border | |
| Occasional (29-5%) | ||
| HP:0001387 | Joint stiffness | |
| HP:0012384 | Rhinitis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0002313 | Spastic paraparesis | |
| HP:0000154 | Wide mouth | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93474
- This record as JSON: /data/d/93474.json